Canonical Allele Identifier: CA126152

Gene: GLO1

Linked Data

• ClinVar Variation Id: 16037
• ClinVar RCV Id: RCV000017412
• dbSNP Id: rs4746
• ExAC: 6:38650628 T / G
• gnomAD v2: 6-38650628-T-G
• gnomAD v3: 6-38682852-T-G
• gnomAD v4: 6-38682852-T-G
• MyVariant Identifiers: chr6:g.38650628T>G (hg19) ; chr6:g.38682852T>G (hg38)
• PubMed: PMID:15386471 ; PMID:17722011 ; PMID:18721844

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38682852T>G , CM000668.2:g.38682852T>G	GRCh38
NC_000006.11:g.38650628T>G , CM000668.1:g.38650628T>G	GRCh37
NC_000006.10:g.38758606T>G	NCBI36
NG_012074.1:g.25325A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000373365.5:c.332A>C MANE Select	ENSP00000362463.3:p.Glu111Ala
ENST00000373365.4:c.332A>C	ENSP00000362463.3:p.Glu111Ala
ENST00000470973.1:n.364A>C
NM_006708.2:c.332A>C	NP_006699.2:p.Glu111Ala
NM_006708.3:c.332A>C MANE Select	NP_006699.2:p.Glu111Ala